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Q42734637-8DEA39B6-B6A1-4728-A923-6678D79687C5
Q42734637-8DEA39B6-B6A1-4728-A923-6678D79687C5
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Statement
http://www.wikidata.org/entity/statement/Q42734637-8DEA39B6-B6A1-4728-A923-6678D79687C5
Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report.
P2860
Q42734637-8DEA39B6-B6A1-4728-A923-6678D79687C5
BestRank
Statement
http://www.wikidata.org/entity/statement/Q42734637-8DEA39B6-B6A1-4728-A923-6678D79687C5
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wasDerivedFrom
862e30598c5a57f6d6811c5d75c09ed207d26820
P2860
Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor